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Salter, Claire G. [Author]; Cai, Yiying [Author]; Lo, Bernice [Author]; Helman, Guy [Author]; Taylor, Henry [Author]; McCartney, Amber [Author]; Leslie, Joseph S [Author]; Accogli, Andrea [Author]; Zara, Federico [Author]; Traverso, Monica [Author]; Fasham, James [Author]; Lees, Joshua A [Author]; Ferla, Matteo P [Author]; Chioza, Barry A [Author]; Wenger, Olivia [Author]; Scott, Ethan [Author]; Cross, Harold E [Author]; Crawford, Joanna [Author]; Warshawsky, Ilka [Author]; Keisling, Matthew [Author]; Agamanolis, Dimitris [Author]; Ward Melver, Catherine [Author]; Cox, Helen [Author]; Elawad, Mamoun [Author]; [...]

Biallelic PI4KA variants cause neurological, intestinal and immunological disease

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August 20, 2021

Published in: Brain ; 144(2021), 12, Seite 3597-3610
Gunning, Adam C; Fryer, Verity; Fasham, James; Crosby, Andrew H; Ellard, Sian; Baple, Emma L; Wright, Caroline F

Assessing performance of pathogenicity predictors using clinically relevant variant datasets

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BMJ, 2021

Published in: Journal of Medical Genetics
Fasham, James; Leslie, Joseph S.; Harrison, Jamie W.; Deline, James; Williams, Katie B.; Kuhl, Ashley; Scott Schwoerer, Jessica; Cross, Harold E.; Crosby, Andrew H.; Baple, Emma L.

No association between SCN9A and monogenic human epilepsy disorders

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Public Library of Science (PLoS), 2020

Published in: PLOS Genetics
Akbar, Abida; Prince, Claire; Payne, Chloe; Fasham, James; Ahmad, Wasim; Baple, Emma L.; Crosby, Andrew H.; Harlalka, Gaurav V.; Gul, Asma

Novel nonsense variants in SLURP1 and DSG1 cause palmoplantar keratoderma in Pakistani families

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Springer Science and Business Media LLC, 2019

Published in: BMC Medical Genetics
Ma, Yan; Wang, Xun; Shoshany, Nadav; Jiao, Xiaodong; Lee, Adrian; Ku, Gregory; Baple, Emma L.; Fasham, James; Nadeem, Raheela; Naeem, Muhammad Asif; Riazuddin, Sheikh; Riazuddin, S. Amer; Crosby, Andrew H.; Hejtmancik, J. Fielding

CLCC1 c. 75CA Mutation in Pakistani Derived Retinitis Pigmentosa Families Likely Originated With a Single Founder Mutation 2,000–5,000 Years Ago

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Frontiers Media SA, 2022

Published in: Frontiers in Genetics
Lin, Siying; Fasham, James; Al-Hijawi, Fida’; Qutob, Nouar; Gunning, Adam; Leslie, Joseph S.; McGavin, Lucy; Ubeyratna, Nishanka; Baker, Wisam; Zeid, Ramez; Turnpenny, Peter D.; Crosby, Andrew H.; Baple, Emma L.; Khalaf-Nazzal, Reham

Consolidating biallelic SDHD variants as a cause of mitochondrial complex II deficiency

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Springer Science and Business Media LLC, 2021

Published in: European Journal of Human Genetics
Khalaf-Nazzal, Reham; Fasham, James; Ubeyratna, Nishanka; Evans, David J.; Leslie, Joseph S.; Warner, Thomas T.; Al-Hijawi, Fida’; Alshaer, Shurouq; Baker, Wisam; Turnpenny, Peter D.; Baple, Emma L.; Crosby, Andrew H.

Final Exon Frameshift Biallelic PTPN23 Variants Are Associated with Microcephalic Complex Hereditary Spastic Paraplegia

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MDPI AG, 2021

Published in: Brain Sciences
Leslie, Joseph S.; Rawlins, Lettie E.; Chioza, Barry A.; Olubodun, Oluwaseun R.; Salter, Claire G.; Fasham, James; Jones, Hannah F.; Cross, Harold E.; Lam, Simon; Harlalka, Gaurav V.; Muggenthaler, Martina M. A.; Crosby, Andrew H.; Baple, Emma L.

MNS1 variant associated with situs inversus and male infertility

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Springer Science and Business Media LLC, 2020

Published in: European Journal of Human Genetics
Rawlins, Lettie E.; Jones, Hannah; Wenger, Olivia; Aye, Myat; Fasham, James; Harlalka, Gaurav V.; Chioza, Barry A.; Miron, Alexander; Ellard, Sian; Wakeling, Matthew; Crosby, Andrew H.; Baple, Emma L.

An Amish founder variant consolidates disruption of CEP55 as a cause of hydranencephaly and renal dysplasia

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Springer Science and Business Media LLC, 2019

Published in: European Journal of Human Genetics
Khalaf‐Nazzal, Reham; Dweikat, Imad; Ubeyratna, Nishanka; Fasham, James; Alawneh, Maysa; Leslie, Joseph; Maree, Mosab; Gunning, Adam; Zayed, Deyala Z.; Voutsina, Nikol; McGavin, Lucy; Sawafta, Reem; Owens, Martina; Baker, Wisam; Turnpenny, Peter; Al‐Hijawi, Fida’; Baple, Emma L.; Crosby, Andrew H.; Rawlins, Lettie E.

TECPR2‐related hereditary sensory and autonomic neuropathy in two siblings from Palestine

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Wiley, 2024

Published in: American Journal of Medical Genetics Part A
Fasham, James; Arno, Gavin; Lin, Siying; Xu, Mingchu; Carss, Keren J.; Hull, Sarah; Lane, Amelia; Robson, Anthony G.; Wenger, Olivia; Self, Jay E.; Harlalka, Gaurav V.; Salter, Claire G.; Schema, Lynn; Moss, Timothy J.; Cheetham, Michael E.; Moore, Anthony T.; Raymond, F. Lucy; Chen, Rui; Baple, Emma L.; Webster, Andrew R.; Crosby, Andrew H.

Delineating the expanding phenotype associated with SCAPER gene mutation

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Wiley, 2019

Published in: American Journal of Medical Genetics Part A
Khalaf-Nazzal, Reham; Fasham, James; Inskeep, Katherine A.; Blizzard, Lauren E.; Leslie, Joseph S.; Wakeling, Matthew N.; Ubeyratna, Nishanka; Mitani, Tadahiro; Griffith, Jennifer L.; Baker, Wisam; Al-Hijawi, Fida’; Keough, Karen C.; Gezdirici, Alper; Pena, Loren; Spaeth, Christine G.; Turnpenny, Peter D.; Walsh, Joseph R.; Ray, Randall; Neilson, Amber; Kouranova, Evguenia; Cui, Xiaoxia; Curiel, David T.; Pehlivan, Davut; Akdemir, Zeynep Coban; [...]

Bi-allelic CAMSAP1 variants cause a clinically recognizable neuronal migration disorder

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Elsevier BV, 2022

Published in: The American Journal of Human Genetics
Fasham, James; Huebner, Antje K; Liebmann, Lutz; Khalaf-Nazzal, Reham; Maroofian, Reza; Kryeziu, Nderim; Wortmann, Saskia B; Leslie, Joseph S; Ubeyratna, Nishanka; Mancini, Grazia M S; van Slegtenhorst, Marjon; Wilke, Martina; Haack, Tobias B; Shamseldin, Hanan E; Gleeson, Joseph G; Almuhaizea, Mohamed; Dweikat, Imad; Abu-Libdeh, Bassam; Daana, Muhannad; Zaki, Maha S; Wakeling, Matthew N; McGavin, Lucy; Turnpenny, Peter D; Alkuraya, Fowzan S; [...]

SLC4A10 mutation causes a neurological disorder associated with impaired GABAergic transmission

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Oxford University Press (OUP), 2023

Published in: Brain
Leslie, Joseph S.; Hjeij, Rim; Vivante, Asaf; Bearce, Elizabeth A.; Dyer, Laura; Wang, Jiaolong; Rawlins, Lettie; Kennedy, Joanna; Ubeyratna, Nishanka; Fasham, James; Irons, Zoe H.; Craig, Samuel B.; Koenig, Julia; George, Sebastian; Pode-Shakked, Ben; Bolkier, Yoav; Barel, Ortal; Mane, Shrikant; Frederiksen, Kathrine K.; Wenger, Olivia; Scott, Ethan; Cross, Harold E.; Lorentzen, Esben; Norris, Dominic P.; [...]

Biallelic DAW1 variants cause a motile ciliopathy characterized by laterality defects and subtle ciliary beating abnormalities

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Elsevier BV, 2022

Published in: Genetics in Medicine
Tábara, Luis Carlos; Al-Salmi, Fatema; Maroofian, Reza; Al-Futaisi, Amna Mohammed; Al-Murshedi, Fathiya; Kennedy, Joanna; Day, Jacob O; Courtin, Thomas; Al-Khayat, Aisha; Galedari, Hamid; Mazaheri, Neda; Protasoni, Margherita; Johnson, Mark; Leslie, Joseph S; Salter, Claire G; Rawlins, Lettie E; Fasham, James; Al-Maawali, Almundher; Voutsina, Nikol; Charles, Perrine; Harrold, Laura; Keren, Boris; Kunji, Edmund R S; Vona, Barbara; [...]

TMEM63C mutations cause mitochondrial morphology defects and underlie hereditary spastic paraplegia

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Oxford University Press (OUP), 2022

Published in: Brain
Fasham, James; Lin, Siying; Ghosh, Promita; Radio, Francesca Clementina; Farrow, Emily G.; Thiffault, Isabelle; Kussman, Jennifer; Zhou, Dihong; Hemming, Rick; Zahka, Kenneth; Chioza, Barry A.; Rawlins, Lettie E.; Wenger, Olivia K.; Gunning, Adam C.; Pizzi, Simone; Onesimo, Roberta; Zampino, Giuseppe; Barker, Emily; Osawa, Natasha; Rodriguez, Megan Christine; Neuhann, Teresa M.; Zackai, Elaine H.; Keena, Beth; Capasso, Jenina; [...]

Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency

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Elsevier BV, 2022

Published in: Genetics in Medicine
Li, Lin; Jiao, Xiaodong; D’Atri, Ilaria; Ono, Fumihito; Nelson, Ralph; Chan, Chi-Chao; Nakaya, Naoki; Ma, Zhiwei; Ma, Yan; Cai, Xiaoying; Zhang, Longhua; Lin, Siying; Hameed, Abdul; Chioza, Barry A.; Hardy, Holly; Arno, Gavin; Hull, Sarah; Khan, Muhammad Imran; Fasham, James; Harlalka, Gaurav V.; Michaelides, Michel; Moore, Anthony T.; Coban Akdemir, Zeynep Hande; Jhangiani, Shalini; [...]

Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa

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Public Library of Science (PLoS), 2018

Published in: PLOS Genetics
Salter, Claire G; Cai, Yiying; Lo, Bernice; Helman, Guy; Taylor, Henry; McCartney, Amber; Leslie, Joseph S; Accogli, Andrea; Zara, Federico; Traverso, Monica; Fasham, James; Lees, Joshua A; Ferla, Matteo P; Chioza, Barry A; Wenger, Olivia; Scott, Ethan; Cross, Harold E; Crawford, Joanna; Warshawsky, Ilka; Keisling, Matthew; Agamanolis, Dimitris; Ward Melver, Catherine; Cox, Helen; Elawad, Mamoun; [...]

Biallelic PI4KA variants cause neurological, intestinal and immunological disease

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Oxford University Press (OUP), 2021

Published in: Brain

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